SLC25A12 Missense Variant in Nova Scotia Duck Tolling Retrievers Affected by Cerebellar Degeneration—Myositis Complex (CDMC)

Christen, Matthias; Rupp, Stefan; Soens, Iris Van; Bhatti, Sofie; Matiasek, Kaspar; Klopmann, Thilo von; Jagannathan, Vidhya; Madden, Indiana; Batcher, Kevin; Bannasch, Danika L.; Leeb, Tosso

doi:10.3390/genes13071223

Cited by 2 publications

(3 citation statements)

References 17 publications

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“…A carrier frequency of 7.1% and 2.7% is described in the European and North American Nova Scotia Duck Tolling Retriever studied population sample, respectively. SLC25A12 encodes the solute carrier family 25 member 12 (SLC25A12), a mitochondrial aspartate/glutamate carrier 31 …”

Section: Multifocal Degenerations With Predominant (Spino)cerebellar ...mentioning

confidence: 99%

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Phenotypic and genetic aspects of hereditary ataxia in dogs

Stee

Poucke

Lowrie³

et al. 2023

Veterinary Internal Medicne

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Hereditary ataxias are a large group of neurodegenerative diseases that have cerebellar or spinocerebellar dysfunction as core feature, occurring as an isolated sign or as part of a syndrome. Based on neuropathology, this group of diseases has so far been classified into cerebellar cortical degenerations, spinocerebellar degenerations, cerebellar ataxias without substantial neurodegeneration, canine multiple system degeneration, and episodic ataxia. Several new hereditary ataxia syndromes are described, but most of these diseases have similar clinical signs and unspecific diagnostic findings, wherefore achieving a definitive diagnosis in these dogs is challenging. Eighteen new genetic variants associated with these diseases have been discovered in the last decade, allowing clinicians to reach a definitive diagnosis for most of these conditions, and allowing breeding schemes to adapt to prevent breeding of affected puppies. This review summarizes the current knowledge about hereditary ataxias in dogs, and proposes to add a "multifocal degenerations with predominant (spino)cerebellar component" category regrouping canine multiple system degeneration, new hereditary ataxia syndromes that do not fit in 1 of the previous categories, as well as specific neuroaxonal dystrophies and lysosomal storage diseases that cause major (spino)cerebellar dysfunction.

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Section: Multifocal Degenerations With Predominant (Spino)cerebellar ...mentioning

confidence: 99%

“…SLC25A12 encodes the solute carrier family 25 member 12 (SLC25A12), a mitochondrial aspartate/glutamate carrier. 31 …”

Section: Multifocal Degenerations With Predominant (Spino)cerebellar ...mentioning

confidence: 99%

Phenotypic and genetic aspects of hereditary ataxia in dogs

Stee

Poucke

Lowrie³

et al. 2023

Veterinary Internal Medicne

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“…In Nova Scotia Duck Tolling Retrievers, a phenotype termed cerebellar degenerationmyositis complex with clinical signs of generalized ataxia and hypermetria, which was more pronounced in the pelvic limbs-was identified. The candidate causal variant was a missense (p.Pro446Leu) in the SLC25A12 gene [32].…”

Section: Hereditary Ataxiasmentioning

confidence: 99%

An Overview of Canine Inherited Neurological Disorders with Known Causal Variants

Cocostîrc,

Paștiu,

Pusta

2023

Animals

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Hereditary neurological conditions documented in dogs encompass congenital, neonatal, and late-onset disorders, along with both progressive and non-progressive forms. In order to identify the causal variant of a disease, the main two approaches are genome-wide investigations and candidate gene investigation. Online Mendelian Inheritance in Animals currently lists 418 Mendelian disorders specific to dogs, of which 355 have their likely causal genetic variant identified. This review aims to summarize the current knowledge on the canine nervous system phenes and their genetic causal variant. It has been noted that the majority of these diseases have an autosomal recessive pattern of inheritance. Additionally, the dog breeds that are more prone to develop such diseases are the Golden Retriever, in which six inherited neurological disorders with a known causal variant have been documented, and the Belgian Shepherd, in which five such disorders have been documented. DNA tests can play a vital role in effectively managing and ultimately eradicating inherited diseases.

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SLC25A12 Missense Variant in Nova Scotia Duck Tolling Retrievers Affected by Cerebellar Degeneration—Myositis Complex (CDMC)

Cited by 2 publications

References 17 publications

Phenotypic and genetic aspects of hereditary ataxia in dogs

Phenotypic and genetic aspects of hereditary ataxia in dogs

An Overview of Canine Inherited Neurological Disorders with Known Causal Variants

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